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Article

ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.

Neurogenetics - 1 Jan 2018

Wang Jing-Yang, Zhou Peng, Wang Jie, Tang Bin, Su Tao, Liu Xiao-Rong, Li Bing-Mei, Meng Heng, Shi Yi-Wu, Yi Yong-Hong, He Na, Liao Wei-Ping

Abstract excerpt

ARHGEF9 resides on Xq11.1 and encodes collybistin, which is crucial in gephyrin clustering and GABAA receptor localization. ARHGEF9 mutations have been identified in patients with heterogeneous phenotypes, including epilepsy of variable severity and intellectual disability. However, the mechanism underlying phenotype variation is unknown. Using next-generation sequencing, we identified a novel mutation,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29130122
DOI: 10.1007/s10048-017-0528-2

Genes

ARHGEF9

Provenance

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